Canonical Allele Identifier: CA411096795

Gene: CHEK2

Linked Data

• dbSNP Id: rs2145803719
• MyVariant Identifiers: chr22:g.29091768C>A (hg19) ; chr22:g.28695780C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.28695780C>A , CM000684.2:g.28695780C>A	GRCh38
NC_000022.10:g.29091768C>A , CM000684.1:g.29091768C>A	GRCh37
NC_000022.9:g.27421768C>A	NCBI36
NG_008150.1:g.51055G>T
NG_008150.2:g.51087G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000711048.1:c.1009-538G>T	ENSP00000518557.1:n.1009-538G>T
ENST00000402731.6:c.988G>T	ENSP00000384835.2:p.Val330Phe
ENST00000404276.6:c.1189G>T MANE Select	ENSP00000385747.1:p.Val397Phe
ENST00000425190.7:c.526G>T	ENSP00000390244.2:p.Val176Phe
ENST00000464581.6:c.529G>T	ENSP00000483777.2:p.Val177Phe
ENST00000648295.1:n.741G>T
ENST00000649563.1:c.526G>T	ENSP00000496928.1:p.Val176Phe
ENST00000650281.1:c.1189G>T	ENSP00000497000.1:p.Val397Phe
ENST00000328354.10:c.1189G>T	ENSP00000329178.6:p.Val397Phe
ENST00000348295.7:c.1102G>T	ENSP00000329012.5:p.Val368Phe
ENST00000382580.6:c.1318G>T	ENSP00000372023.2:p.Val440Phe
ENST00000402731.5:c.1102G>T	ENSP00000384835.1:p.Val368Phe
ENST00000403642.5:c.916G>T	ENSP00000384919.1:p.Val306Phe
ENST00000404276.5:c.1189G>T	ENSP00000385747.1:p.Val397Phe
ENST00000405598.5:c.1189G>T	ENSP00000386087.1:p.Val397Phe
ENST00000416671.5:c.*679G>T	ENSP00000402225.1:n.*679G>T
ENST00000417588.5:c.1098G>T	ENSP00000412901.1:n.1098G>T
ENST00000433728.5:c.1127G>T	ENSP00000404400.1:n.1127G>T
ENST00000434810.5:c.420G>T
ENST00000448511.5:c.1079G>T	ENSP00000404567.1:n.1079G>T
ENST00000456369.5:c.263+4058G>T
NM_001005735.1:c.1318G>T	NP_001005735.1:p.Val440Phe
NM_001257387.1:c.526G>T	NP_001244316.1:p.Val176Phe
NM_007194.3:c.1189G>T	NP_009125.1:p.Val397Phe
NM_145862.2:c.1102G>T	NP_665861.1:p.Val368Phe
XM_006724114.2:c.709G>T	XP_006724177.1:p.Val237Phe
XM_006724116.2:c.646G>T	XP_006724179.2:p.Val216Phe
XM_011529839.1:c.1348G>T	XP_011528141.1:p.Val450Phe
XM_011529840.1:c.1261G>T	XP_011528142.1:p.Val421Phe
XM_011529841.1:c.1117G>T	XP_011528143.1:p.Val373Phe
XM_011529842.1:c.1018G>T	XP_011528144.1:p.Val340Phe
XM_011529843.1:c.988G>T	XP_011528145.1:p.Val330Phe
XM_011529845.1:c.526G>T	XP_011528147.1:p.Val176Phe
XR_937805.1:n.1348G>T
NM_001349956.1:c.988G>T	NP_001336885.1:p.Val330Phe
NM_007194.4:c.1189G>T MANE Select	NP_009125.1:p.Val397Phe
XM_006724114.3:c.742G>T	XP_006724177.2:p.Val248Phe
XM_011529839.2:c.1348G>T	XP_011528141.1:p.Val450Phe
XM_011529840.3:c.1261G>T	XP_011528142.1:p.Val421Phe
XM_011529842.2:c.1018G>T	XP_011528144.1:p.Val340Phe
XM_011529845.2:c.526G>T	XP_011528147.1:p.Val176Phe
XM_017028560.1:c.1312G>T	XP_016884049.1:p.Val438Phe
XM_017028561.2:c.526G>T	XP_016884050.1:p.Val176Phe
XM_024452148.1:c.1219G>T	XP_024307916.1:p.Val407Phe
XM_024452149.1:c.1132G>T	XP_024307917.1:p.Val378Phe
XR_937805.2:n.1359G>T
NM_001005735.2:c.1318G>T	NP_001005735.1:p.Val440Phe
NM_001257387.2:c.526G>T	NP_001244316.1:p.Val176Phe
NM_001349956.2:c.988G>T	NP_001336885.1:p.Val330Phe